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https://www.readbyqxmd.com/read/30311141/case-of-neonatal-fatality-from-neuromuscular-variant-of-glycogen-storage-disease-type-iv
#1
Tavleen Sandhu, Michelle Polan, Zhongxin Yu, Rufei Lu, Abhishek Makkar
Glycogen storage disease type IV (GSD-IV), or Andersen disease, is a rare autosomal recessive disorder that results from the deficiency of glycogen branching enzyme (GBE). This in turn results in accumulation of abnormal glycogen molecules that have longer outer chains and fewer branch points. GSD-IV manifests in a wide spectrum, with variable phenotypes depending on the degree and type of tissues in which this abnormal glycogen accumulates. Typically, GSD-IV presents with rapidly progressive liver cirrhosis and death in early childhood...
October 12, 2018: JIMD Reports
https://www.readbyqxmd.com/read/30228975/analysis-of-gbe1-mutations-via-protein-expression-studies-in-glycogen-storage-disease-type-iv-a-report-on-a-non-progressive-form-with-a-literature-review
#2
Hiroyuki Iijima, Reiko Iwano, Yukichi Tanaka, Koji Muroya, Tokiko Fukuda, Hideo Sugie, Kenji Kurosawa, Masanori Adachi
Background: Glycogen storage disease type IV (GSD IV), caused by GBE1 mutations, has a quite wide phenotypic variation. While the classic hepatic form and the perinatal/neonatal neuromuscular forms result in early mortality, milder manifestations include non-progressive form (NP-GSD IV) and adult polyglucosan body disease (APBD). Thus far, only one clinical case of a patient with compound heterozygous mutations has been reported for the molecular analysis of NP-GSD IV. This study aimed to elucidate the molecular basis in a NP-GSD IV patient via protein expression analysis and to obtain a clearer genotype-phenotype relationship in GSD IV...
December 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30042020/the-inflammatory-pseudotumor-presenting-periodic-acid-schiff-positive-inclusions-with-acute-unilateral-facial-nerve-palsy
#3
Akira Inagaki, Masaomi Motegi, Yuji Sato, Hideo Hattori, Shingo Murakami
Although most acute peripheral facial palsies can be attributed to Bell's palsy, other factors, such as infection, trauma, and neoplasm, can cause facial palsy as well. Among these, facial nerve tumors are rare but should be considered in the differential diagnosis of facial palsy. Palsies due to facial nerve tumors usually present with slow onset but occasionally present as acute episodes. In such cases, facial nerve decompression is the treatment of choice to allow the tumor room to grow without compressing the nerve or its blood supply...
July 2, 2018: Auris, Nasus, Larynx
https://www.readbyqxmd.com/read/30020094/epithelial-inclusions-in-gallbladder-specimens-mimic-parasite-infection-histologic-and-molecular-examination-of-reported-cystoisospora-belli-infection-in-gallbladders-of-immunocompetent-patients
#4
Eric A Swanson, Jordon K March, Frederic Clayton, Marc R Couturier, Ramir Arcega, Richard Smith, Kimberley J Evason
Recent publications have described epithelial cytoplasmic vacuoles and inclusions incidentally noted within gallbladder epithelium and concluded that they represent coccidian parasite infection, in particular, Cystoisospora belli. We identified 8 gallbladder specimens from our institution in the past 3 years in which this diagnosis was suggested or in which similar epithelial alterations were prominent. Molecular analysis was performed on the 8 gallbladder specimens and on 3 positive control specimens: small bowel biopsies from acquired immunodeficiency syndrome patients with diarrhea...
October 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29953102/-endoscopic-retro-muscular-alloplasty-for-primary-and-postoperative-ventral-hernias-our-initial-experience
#5
A V Sazhin, G B Ivakhov, A V Andriyashkin, V A Mamadumarov, A S Nikishkov, K M Loban
AIM: To define optimal surgical approach for middle primary and postoperative ventral hernias. MATERIAL AND METHODS: We have presented the first results of endoscopic retro-muscular alloplasty in 8 patients with umbilical hernia and postoperative ventral hernia combined with rectus abdominis muscles diastase. RESULTS: One patient had seroma above mesh implant that was evacuated under ultrasonic control. Absent hernial protrusion and reduced diastase were noted in all patients...
2018: Khirurgiia
https://www.readbyqxmd.com/read/29925121/development-of-an-extraction-method-for-the-quantification-of-lignans-in-espresso-coffee-by-using-hplc-ms-ms-triple-quadrupole
#6
Simone Angeloni, Luciano Navarini, Gianni Sagratini, Elisabetta Torregiani, Sauro Vittori, Giovanni Caprioli
Lignans are polyphenolic compounds that are considered phytoestrogens for their plant origins, and they possess different biological activities. Three different extraction methods, ie, "dilute and shoot", acidic hydrolysis, and enzymatic digestion, have been compared for extracting lignans (secoisolariciresinol (SECO), matairesinol (MAT), and lariciresinol (LARI)) from espresso coffee (EC) by using high-performance liquid chromatography (HPLC) tandem mass spectrometry (MS/MS). The best recovery values (SECO: 97%, LARI: 98%, and MAT: 93%) were obtained by using enzymatic hydrolysis with Clara-Diastase at 10% (w/v), keeping the sample at 37°C for 3 hours...
September 2018: Journal of Mass Spectrometry: JMS
https://www.readbyqxmd.com/read/29881428/characterization-and-classification-of-iranian-honey-based-on-physicochemical-properties-and-antioxidant-activities-with-chemometrics-approach
#7
Hamid Moloudian, Sepideh Abbasian, Nasser Nassiri-Koopaei, Mohammad Reza Tahmasbi, Golnaz Alsadat Afzal, Maryam Sadat Ahosseini, Masud Yunesian, Mohammad Reza Khoshayand
In the present study, the physicochemical properties and antioxidant activities of different Iranian honey samples are investigated using various multivariate techniques in order to develop a quality control model. Forty-eight Iranian honey samples were tested for 15 physicochemical and antioxidant parameters. The parameters for which the samples were tested included color intensity, moisture, electrical conductivity, pH, free acidity, diastase activity, hydroxymethylfurfural content, proline level, total phenolic content, antioxidant activity, and radical scavenging activity...
2018: Iranian Journal of Pharmaceutical Research: IJPR
https://www.readbyqxmd.com/read/29794767/thyroid-follicular-carcinoma-like-renal-tumor-a-case-report-and-literature-review
#8
Yujie Zhang, Jing Yang, Mingfang Zhang, Zhaowei Meng, Wenjing Song, Long Yang, Liming Li, Dan Wang, Tao Shi
RATIONALE: Thyroid follicular carcinoma-like renal tumor (TFCLRT) is a rare primary renal epithelial tumor that was first reported in 2006. We report a case diagnosed of TFCLRT by us to observe the pathological feature and analyze comparatively the clinical and pathologic characteristics with all cases of reviewed literatures. PATIENT CONCERNS: A 54-year-old female patient had the urinary frequency with the symptom of right flank pain with a history of more than half a year of hypertension and received uterine fibroid resection 12 years ago...
May 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29751904/quality-evaluation-of-omani-honey
#9
Mohamed Al-Farsi, Sharifa Al-Belushi, Abeer Al-Amri, Ahlam Al-Hadhrami, Mahfoodha Al-Rusheidi, Amani Al-Alawi
This study was intended to evaluate the quality parameters of 58 Apis mellifera honey samples, from different regions in the Sultanate of Oman. Physicochemical analyses were carried out and examined according to the Gulf Standardization Organization (GSO). The results revealed that 64.4% of the samples were failing to meet the GSO standards due to acidity, hydroxyl methyl furfural (HMF), diastase, sucrose, and glucose & fructose. Acidity and HMF were above the limits in 30% and 29% of the failed samples respectively, where diastase and total glucose & fructose were below the limits in 25% and 5% respectively...
October 1, 2018: Food Chemistry
https://www.readbyqxmd.com/read/29745421/intradural-extramedullary-granular-cell-tumour-in-a-cat
#10
A Valentini, S Canal, M T Mandara, F Balducci, M Bernardini
A 7-year-old domestic shorthair cat was evaluated for progressive paraparesis, inability to jump, a paralysed tail and inability to void the bladder. Neurologic examination was consistent with a L4-S3 localisation. Survey radiographs of the lumbar vertebral column revealed L4-L7 vertebral body remodelling. A pre-contrast T1-weighted hyperintense, diffusely enhancing intradural lesion extending from L4 to S1 vertebral bodies was detected by MRI. Large, mesenchymal, round-to-polygonal cells arranged in nests or sheets were found on histologic examination at post mortem...
May 10, 2018: Journal of Small Animal Practice
https://www.readbyqxmd.com/read/29582708/peritoneal-and-scrotal-carcinomas-of-unknown-origin-in-two-bovine-calves
#11
Kelsey A Brakel, Grace VanHoy, Austin Hinds, Justin Breitbach, Christopher Premanandan, Rebecca Kohnken
Two unrelated bovine beef calves, aged 2 mo and 3 mo, were presented to The Ohio State University Veterinary Medical Center because of scrotal swelling and abdominal distension. On postmortem examination, there was abundant peritoneal fluid and numerous small friable masses covering all peritoneal surfaces and extending into the scrotum via the tunica vaginalis, with no identifiable primary neoplasm. Based on light microscopy, differential diagnoses included malignant mesothelioma and anaplastic carcinoma. Immunohistochemically, the neoplasms labeled positive for cytokeratin, and negative for vimentin and calretinin...
July 2018: Journal of Veterinary Diagnostic Investigation
https://www.readbyqxmd.com/read/29540991/study-on-power-ultrasound-optimization-and-its-comparison-with-conventional-thermal-processing-for-treatment-of-raw-honey
#12
Sandeep Janghu, Manab B Bera, Vikas Nanda, Ashish Rawson
The present study was done to optimize the power ultrasound processing for maximizing diastase activity of and minimizing hydroxymethylfurfural (HMF) content in honey using response surface methodology. Experimental design with treatment time (1-15 min), amplitude (20-100%) and volume (40-80 mL) as independent variables under controlled temperature conditions was studied and it was concluded that treatment time of 8 min, amplitude of 60% and volume of 60 mL give optimal diastase activity and HMF content, i...
December 2017: Food Technology and Biotechnology
https://www.readbyqxmd.com/read/29524170/physicochemical-parameters-and-microbiological-status-of-honey-produced-in-an-urban-environment-in-serbia
#13
Kazimir Matović, Jelena Ćirić, Vesna Kaljević, Nebojša Nedić, Goran Jevtić, Nikola Vasković, Milan Ž Baltić
Honey is a natural substance produced by honey bees (the genus Apis) enjoyed by people due to its unique nutritional and medicinal properties. The aim of this study was to determine the physicochemical parameters (moisture, ash, water-insoluble content, reducing sugars, sucrose, free acidity, diastase activity, hydroxymethylfurfural, and electrical conductivity) and microbiological status (total number of aerobic mesophilic bacteria, total number of sulfite-reducing clostridia, the presence of Salmonella spp...
May 2018: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/29505478/retrospective-analysis-of-children-with-%C3%AE-1-antitrypsin-deficiency
#14
Atakan Comba, Fatma Demirbaş, Gönül Çaltepe, Esra Eren, Ayhan G Kalayci
BACKGROUND: α-1 Antitrypsin (AAT) deficiency is the most frequently occurring genetic liver disorder. The association among classical α-1 antitrypsin deficiency (AATD), chronic liver disease, and cirrhosis is common in adult patients but rare in children. AIM: To assess the clinical characteristics of children with AATD and to compare symptoms between homozygous and heterozygous children. MATERIALS AND METHODS: The study included 20 children who were found to have mutant Pi alleles...
July 2018: European Journal of Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/29456778/incidence-and-functional-outcomes-of-scapholunate-diastases-associated-distal-radius-fractures-a-2-year-follow-up-scapholunate-dissociation
#15
Jonathan Lans, Alejandro Lasa, Neal C Chen, Jesse B Jupiter
Background: The Scapholunate Interosseous Ligament (SLIL) is the first intrinsic carpal ligament to be injured in wrist trauma, present in up to 64% of the distal radius fractures. However, it remains unclear what patients develop symptoms, making primary treatment of these injuries accompanying distal radius fractures remains questionable. Objective: The aim of this study was to evaluate the functional outcomes of patients with scapholunate diastasis associated with distal radius fractures...
2018: Open Orthopaedics Journal
https://www.readbyqxmd.com/read/29430363/optimization-of-gluco-amylase-production-from-aspergillus-spp-for-its-use-in-saccharification-of-liquefied-corn-starch
#16
Deepali Jain, Priya Katyal
Fungal gluco-amylase is required for the production of sugars from starchy substrates. Commercially available fungal gluco-amylase is quite costly which makes the process uneconomical. This study was undertaken to standardize physico-chemical parameters for optimum production of gluco-amylases from Aspergillus spp. Two fungal cultures, i.e., Aspergillus niger and Aspergillus terreus , were compared for gluco-amylase activity both under stationary and shake flask conditions. Among two fungal cultures, maximum gluco-amylase activity was shown by A...
February 2018: 3 Biotech
https://www.readbyqxmd.com/read/29387360/malting-and-fermentation-effects-on-antinutritional-components-and-functional-characteristics-of-sorghum-flour
#17
Pravin Ojha, Roshan Adhikari, Roman Karki, Achyut Mishra, Ujjwol Subedi, Tika Bahadur Karki
The research was aimed to observe the effect of malting and fermentation on antinutritional component and functional characteristics of sorghum flour. For whole sorghum flour, cleaned sorghum grain was milled to pass through 40 mesh sieve. For malting, cleaned sorghum grain was steeped in 0.2% calcium hydroxide solution for 24 hr and then germinated for 48 hr at 90% RH and 27 ± 2°C. Sprout was removed, dried in hot air oven at 50 ± 2°C for 24 hr and milled to pass through 40 mesh sieve. For fermented sorghum flour, 13...
January 2018: Food Science & Nutrition
https://www.readbyqxmd.com/read/29314259/clinical-features-and-nail-clippings-in-52-children-with-psoriasis
#18
Marjorie Uber, Vânia O Carvalho, Kerstin T Abagge, Renata Robl Imoto, Betina Werner
BACKGROUND/OBJECTIVES: Nail clipping, the act of cutting the distal portion of a nail for microscopic analysis, can complement the diagnosis of skin diseases with nail involvement, such as psoriasis. This study aimed to describe histopathologic findings on 81 nails from 52 children and adolescents with skin psoriasis and to determine whether these changes correlated with the severity of skin and nail involvement. METHODS: Children with psoriasis were enrolled in this cross-sectional study to obtain Psoriasis Area and Severity Index (PASI) and Nail Psoriasis Severity Index (NAPSI) scores...
March 2018: Pediatric Dermatology
https://www.readbyqxmd.com/read/29279489/glycogenic-hepatopathy-in-type-1-diabetes-mellitus
#19
Shohei Asada, Hideto Kawaratani, Tsuyoshi Mashitani, Daisuke Kaya, Maiko Nishigori, Takuya Kubo, Yasuhiko Sawada, Yukihisa Fujinaga, Kosuke Kaji, Mitsuteru Kitade, Tadashi Namisaki, Kei Moriya, Akira Mitoro, Hitoshi Yoshiji
Glycogenic hepatopathy (GH) is a rare complication of poorly controlled type 1 diabetes mellitus (T1DM), and is characterized by elevated liver enzymes, hepatomegaly, and glycogen accumulation. We herein present the case of a 23-year-old man with poorly controlled T1DM who had liver dysfunction. Imaging studies showed severe hepatomegaly and fatty liver. The examination of a liver biopsy specimen revealed fatty droplets, ballooning, inflammation, and mild fibrosis. Subsequent periodic acid-Schiff (PAS) staining after diastase digestion confirmed GH...
April 15, 2018: Internal Medicine
https://www.readbyqxmd.com/read/29187936/mucin-expression-patterns-in-histological-grades-of-colonic-cancers-in-ghanaian-population
#20
Kwabena Owusu Danquah, Ernest Adjei, Solomon Quayson, Ernest Adankwah, Daniel Gyamfi, Paul Poku Sampene Ossei, Gideon Dzikunu, Portia Mensah, Cecilia Lepkor
Introduction: Myriad roles of mucins in normal tissues have been well documented, including lubrication of the epithelial surfaces; protection from physical damage; facilitation in cell-cell signaling and suppression of inflammatory activity. Pathological expression of mucins has been noted in cancer development and progression. This study sought to identify and quantify the types of mucins produced during various histological grades of colon cancer and to assess the diagnostic significance...
2017: Pan African Medical Journal
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